Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KRTAP5-3 Gene

Aliases for KRTAP5-3 Gene

  • Keratin Associated Protein 5-3 2 3 5
  • Ultrahigh Sulfur Keratin-Associated Protein 5.3 3 4
  • Keratin-Associated Protein 5-9 3 4
  • Keratin-Associated Protein 5.3 3 4
  • Keratin-Associated Protein 5.9 3 4
  • KRTAP5-9 3 4
  • KRTAP5.3 3 4
  • UHS KerB-Like 4
  • KRTAP5.9 4
  • KAP5-9 4
  • KAP5.3 4

External Ids for KRTAP5-3 Gene

Previous GeneCards Identifiers for KRTAP5-3 Gene

  • GC00U913939
  • GC11U900658
  • GC11M001585
  • GC11M001628
  • GC11M001421

Summaries for KRTAP5-3 Gene

GeneCards Summary for KRTAP5-3 Gene

KRTAP5-3 (Keratin Associated Protein 5-3) is a Protein Coding gene.

UniProtKB/Swiss-Prot for KRTAP5-3 Gene

  • In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRTAP5-3 Gene

Genomics for KRTAP5-3 Gene

Regulatory Elements for KRTAP5-3 Gene

Genomic Location for KRTAP5-3 Gene

Chromosome:
11
Start:
1,607,565 bp from pter
End:
1,608,463 bp from pter
Size:
899 bases
Orientation:
Minus strand

Genomic View for KRTAP5-3 Gene

Genes around KRTAP5-3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRTAP5-3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRTAP5-3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRTAP5-3 Gene

Proteins for KRTAP5-3 Gene

  • Protein details for KRTAP5-3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6L8H2-KRA53_HUMAN
    Recommended name:
    Keratin-associated protein 5-3
    Protein Accession:
    Q6L8H2
    Secondary Accessions:
    • Q6PL44
    • Q701N3

    Protein attributes for KRTAP5-3 Gene

    Size:
    238 amino acids
    Molecular mass:
    22106 Da
    Quaternary structure:
    • Interacts with hair keratins.

neXtProt entry for KRTAP5-3 Gene

Proteomics data for KRTAP5-3 Gene at MOPED

Post-translational modifications for KRTAP5-3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRTAP5-3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRTAP5-3 Gene

Domains & Families for KRTAP5-3 Gene

Gene Families for KRTAP5-3 Gene

Protein Domains for KRTAP5-3 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRTAP5-3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6L8H2

UniProtKB/Swiss-Prot:

KRA53_HUMAN :
  • Belongs to the KRTAP type 5 family.
Family:
  • Belongs to the KRTAP type 5 family.
genes like me logo Genes that share domains with KRTAP5-3: view

Function for KRTAP5-3 Gene

Molecular function for KRTAP5-3 Gene

UniProtKB/Swiss-Prot Function:
In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

Phenotypes for KRTAP5-3 Gene

GenomeRNAi human phenotypes for KRTAP5-3:
genes like me logo Genes that share phenotypes with KRTAP5-3: view

Animal Model Products

CRISPR Products

miRNA for KRTAP5-3 Gene

miRTarBase miRNAs that target KRTAP5-3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KRTAP5-3 Gene

Localization for KRTAP5-3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRTAP5-3 Gene COMPARTMENTS Subcellular localization image for KRTAP5-3 gene
Compartment Confidence
extracellular 3
cytoskeleton 2
cytosol 1
mitochondrion 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KRTAP5-3 Gene

Pathways & Interactions for KRTAP5-3 Gene

SuperPathways for KRTAP5-3 Gene

No Data Available

Interacting Proteins for KRTAP5-3 Gene

Gene Ontology (GO) - Biological Process for KRTAP5-3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for KRTAP5-3 Gene

Drugs & Compounds for KRTAP5-3 Gene

(1) Drugs for KRTAP5-3 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Beta-D-Glucose Experimental Pharma Target 0
genes like me logo Genes that share compounds with KRTAP5-3: view

Transcripts for KRTAP5-3 Gene

mRNA/cDNA for KRTAP5-3 Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for KRTAP5-3 Gene

No ASD Table

Relevant External Links for KRTAP5-3 Gene

GeneLoc Exon Structure for
KRTAP5-3
ECgene alternative splicing isoforms for
KRTAP5-3

Expression for KRTAP5-3 Gene

mRNA expression in normal human tissues for KRTAP5-3 Gene

mRNA differential expression in normal tissues according to GTEx for KRTAP5-3 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x47.7) and Skin - Sun Exposed (Lower leg) (x4.2).

SOURCE GeneReport for Unigene cluster for KRTAP5-3 Gene Hs.532471

mRNA Expression by UniProt/SwissProt for KRTAP5-3 Gene

Q6L8H2-KRA53_HUMAN
Tissue specificity: Restricted to hair root, not detected in any other tissues.
genes like me logo Genes that share expression patterns with KRTAP5-3: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KRTAP5-3 Gene

Orthologs for KRTAP5-3 Gene

Evolution for KRTAP5-3 Gene

ENSEMBL:
Gene Tree for KRTAP5-3 (if available)
TreeFam:
Gene Tree for KRTAP5-3 (if available)

No data available for Orthologs for KRTAP5-3 Gene

Paralogs for KRTAP5-3 Gene

No data available for Paralogs for KRTAP5-3 Gene

Variants for KRTAP5-3 Gene

Sequence variations from dbSNP and Humsavar for KRTAP5-3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs7129002 - 1,608,307(+) ATAGC(C/T)GGAGC reference, missense
rs7108370 - 1,608,303(+) CCCCA(C/T)AGCCG reference, missense
rs7125831 - 1,608,168(+) CCTTG(C/G)AGCCC reference, missense
rs7125826 - 1,608,159(+) CACAG(A/C)CCCCC reference, missense
rs7113784 - 1,608,138(+) CCTTG(C/G)AGCCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KRTAP5-3 Gene

Variant ID Type Subtype PubMed ID
dgv968n71 CNV Loss 21882294
esv2743946 CNV Deletion 23290073
esv991273 CNV Deletion 20482838

Variation tolerance for KRTAP5-3 Gene

Residual Variation Intolerance Score: 77.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.61; 56.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRTAP5-3 Gene

HapMap Linkage Disequilibrium report
KRTAP5-3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRTAP5-3 Gene

Disorders for KRTAP5-3 Gene

Relevant External Links for KRTAP5-3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRTAP5-3

No disorders were found for KRTAP5-3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KRTAP5-3 Gene

Publications for KRTAP5-3 Gene

  1. Identification of two novel clusters of ultrahigh-sulfur keratin- associated protein genes on human chromosome 11. (PMID: 15144888) Yahagi S. … Shimizu N. (Biochem. Biophys. Res. Commun. 2004) 2 3 4 67
  2. The Protein Data Bank. (PMID: 10592235) Berman H.M. … Bourne P.E. (Nucleic Acids Res. 2000) 25

Products for KRTAP5-3 Gene

Sources for KRTAP5-3 Gene

Back to Top

Content